Canonical Allele Identifier: CA363782678

Gene: TULP1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.35509723G>C , CM000668.2:g.35509723G>C	GRCh38
NC_000006.11:g.35477500G>C , CM000668.1:g.35477500G>C	GRCh37
NC_000006.10:g.35585478G>C	NCBI36
NG_009077.1:g.8148C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003322.6:c.629C>G MANE Select	NP_003313.3:p.Ser210Ter
ENST00000229771.11:c.629C>G MANE Select	ENSP00000229771.6:p.Ser210Ter
NM_001289395.1:c.470C>G	NP_001276324.1:p.Ser157Ter
NM_001289395.2:c.470C>G	NP_001276324.1:p.Ser157Ter
NM_003322.4:c.629C>G	NP_003313.3:p.Ser210Ter
NM_003322.5:c.629C>G	NP_003313.3:p.Ser210Ter
ENST00000229771.10:c.629C>G	ENSP00000229771.6:p.Ser210Ter
ENST00000322263.8:c.470C>G	ENSP00000319414.4:p.Ser157Ter
ENST00000373892.4:n.321-411C>G
ENST00000614066.4:c.629C>G	ENSP00000477534.1:p.Ser210Ter